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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Autosomal recessive spinocerebellar ataxias (SCARs)

Autosomal recessive spinocerebellar ataxias (SCARs)
Disorder Distinguishing features Gene or locus Protein
SCAR1 Now classified as SCAN2 (AOA2)    
SCAR2 Ataxia, developmental delay PMPCA Alpha-mitochondrial processing peptidase, beta subunit
SCAR3 Ataxia, blindness, deafness 6p21-23  
SCAR4 Ataxia, saccadic intrusions, spasticity, hyperreflexia VPS13D Vacuolar protein sorting 13 homolog D
Formerly SCAR5 Galloway-Mowat syndrome 1 (nonprogressive congenital cerebellar ataxia, infantile-onset microcephaly, central nervous system abnormalities) WDR73 WD repeat domain 73
SCAR6 Nonprogressive infantile cerebellar ataxia, delayed walking and speech, hypotonia, clumsy movements 20q11-13  
SCAR7 Ataxia, eye movement difficulties TPP1 Tripeptidyl peptidase 1
SCAR8 Progressive ataxia, neurodegeneration, spasticity SYNE1 Nesprin-1
SCAR9/COQ10D4 Childhood-onset cerebellar ataxia, exercise intolerance, coenzyme Q10 deficiency ADCK1 AarF domain containing kinase 1
SCAR10 Ataxia, dysarthria, nystagmus, marked cerebellar atrophy, coenzyme Q10 deficiency ANO10 Anoctamin 10
SCAR11 Ataxia, developmental delay, dysarthria SYT14 Synaptotagmin 14
SCAR12 Ataxia, generalized seizures in infancy, developmental delay WWOX WW domain containing oxidoreductase
SCAR13 Ataxia, delayed intellectual development, poor/absent speech, hyperreflexia GRM1 Glutamate metabotropic receptor 1
SCAR14 Early-onset gait ataxia, developmental delay, eye movement abnormalities SPTBN2 Spectrin beta, non-erythrocytic 2
SCAR15 Early-onset ataxia, cognitive impairment, dysarthria RUBCN RUN and cysteine rich domain containing Beclin 1 interacting protein
SCAR16 Truncal and limb ataxia STUB1 STIP1 homology and U-box containing protein 1
SCAR17 Childhood-onset gait ataxia, intellectual disability CWF19L1 CWF19-like 1, cell cycle control
SCAR18 Developmental delay, severe gait impairment, oculomotor abnormalities GRID2 Glutamate ionotropic receptor delta type subunit 2
SCAR19 Lichtenstein-Knorr syndrome (severe progressive sensorineural hearing loss and cerebellar ataxia) SLC9A1 Solute carrier family 9 member A1
SCAR20 Ataxia, severe developmental delay, poor/absent speech, coarse facies, cerebellar atrophy SNX14 Sorting nexin 14
SCAR21 Ataxia, liver dysfunction or failure SCYL1 SCY1-like pseudokinase 1
SCAR22 Adult-onset cerebellar ataxia and intellectual disability VWA3B von Willebrand factor A domain containing 3B
SCAR23 Epilepsy, intellectual disability, gait ataxia TDP2 Tyrosyl-DNA phosphodiesterase 2
SCAR24 Gait instability, speech difficulties, delayed growth in childhood UBA5 Ubiquitin-like modifier activating enzyme 5
SCAR25 Dysmetria, truncal ataxia, developmental delay, cerebellar hypoplasia ATG5 Autophagy related 5
SCAR26* Dysmetria, dysdiadochokinesis, cerebellar atrophy XRCC1 X-ray repair cross complementing 1
SCAR27 Gait difficulties, dysarthria, lower-limb spasticity, cerebellar atrophy GDAP2 Ganglioside-induced differentiation associated protein 2
SCAR28 Early childhood motor delay, uncoordinated fine movements, dysarthria THG1L tRNA-histidine guanylyltransferase 1-like
SCAR29 Bayahaka neurodevelopmental disorder (hypotonia, visual impairment, cerebellar ataxia) VPS41 VPS41, HOPS complex subunit
SCAR30 Impaired intellectual development, motor dysfunction, cerebellar ataxia PITRM1 Pitrilysin metallopeptidase 1
SCAR31 Ataxia, hypotonia, tremor, dysarthria ATG7 Autophagy related 7
SCAN: spinocerebellar ataxia with neuropathy; AOA: ataxia with oculomotor apraxia; STIP1: stress-induced phosphoprotein 1; tRNA: transfer ribonucleic acid; VPS41: vacuolar protein sorting-associated protein 41 homolog; HOPS: homotypic fusion and protein sorting.
* Also categorized as an ataxia syndrome caused by impaired DNA repair mechanisms.
Graphic 133268 Version 1.0

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